Variant report

Variant	rs631508
Chromosome Location	chr10:6441748-6441749
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6319800..6323554-chr10:6441503..6444162,3	MCF-7	breast:
2	chr10:6240172..6247565-chr10:6441706..6450964,34	MCF-7	breast:
3	chr10:6268377..6270952-chr10:6439615..6442494,2	MCF-7	breast:
4	chr10:6264043..6266844-chr10:6441724..6444209,2	MCF-7	breast:
5	chr10:6336971..6341697-chr10:6441247..6445868,11	MCF-7	breast:
6	chr10:6335347..6345426-chr10:6438966..6446500,25	MCF-7	breast:
7	chr10:6405295..6407901-chr10:6440170..6443280,3	MCF-7	breast:
8	chr10:6355714..6359747-chr10:6439655..6444608,4	MCF-7	breast:
9	chr10:6256631..6260538-chr10:6441320..6445135,3	MCF-7	breast:
10	chr10:6241662..6248347-chr10:6438932..6450669,77	MCF-7	breast:
11	chr10:6213842..6217578-chr10:6440215..6444300,4	MCF-7	breast:
12	chr10:6433781..6435958-chr10:6440894..6443926,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170525	Chromatin interaction
ENSG00000226705	Chromatin interaction
ENSG00000213994	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10796089	1.00[EUR][1000 genomes]
rs11258372	1.00[EUR][1000 genomes]
rs11258441	1.00[EUR][1000 genomes]
rs11258935	1.00[EUR][1000 genomes]
rs11258970	1.00[EUR][1000 genomes]
rs34169455	1.00[EUR][1000 genomes]
rs584413	1.00[EUR][1000 genomes]
rs585932	1.00[EUR][1000 genomes]
rs586439	0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs587378	1.00[EUR][1000 genomes]
rs599922	1.00[EUR][1000 genomes]
rs601150	1.00[EUR][1000 genomes]
rs601622	1.00[EUR][1000 genomes]
rs605806	1.00[EUR][1000 genomes]
rs611505	1.00[EUR][1000 genomes]
rs612497	1.00[EUR][1000 genomes]
rs615546	0.81[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs617197	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs630027	0.81[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs630266	0.88[AFR][1000 genomes]
rs644180	1.00[EUR][1000 genomes]
rs646830	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs647063	1.00[EUR][1000 genomes]
rs647279	1.00[EUR][1000 genomes]
rs650471	1.00[EUR][1000 genomes]
rs681023	1.00[EUR][1000 genomes]
rs682560	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7908102	1.00[EUR][1000 genomes]
rs806394	1.00[EUR][1000 genomes]
rs806395	1.00[EUR][1000 genomes]
rs806412	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv430123	chr10:6309402-6448384	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv430125	chr10:6322167-6477267	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6425600-6443600	Weak transcription	Aorta	Aorta
2	chr10:6433800-6448600	Weak transcription	Primary T cells from cord blood	blood
3	chr10:6434600-6443600	Weak transcription	Fetal Brain Female	brain
4	chr10:6436400-6443600	Weak transcription	Fetal Kidney	kidney
5	chr10:6436600-6443400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:6436600-6443400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr10:6437200-6444000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr10:6437600-6444400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr10:6439200-6443400	Weak transcription	NHEK	skin
10	chr10:6440400-6442000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr10:6440400-6443400	Enhancers	Brain Substantia Nigra	brain
12	chr10:6440400-6443600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:6440600-6442000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:6440600-6442200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr10:6440600-6443600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:6440600-6444000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr10:6440800-6442000	Enhancers	Primary B cells from cord blood	blood
18	chr10:6440800-6442200	Enhancers	Fetal Stomach	stomach
19	chr10:6440800-6443600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr10:6440800-6443600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:6441000-6441800	Enhancers	NHLF	lung
22	chr10:6441000-6442200	Enhancers	Placenta	Placenta
23	chr10:6441000-6442200	Enhancers	Stomach Smooth Muscle	stomach
24	chr10:6441000-6442200	Enhancers	NH-A	brain
25	chr10:6441000-6442400	Flanking Active TSS	A549	lung
26	chr10:6441000-6442600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:6441000-6442800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr10:6441000-6443800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:6441200-6441800	Weak transcription	Fetal Thymus	thymus
30	chr10:6441200-6442200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:6441200-6442200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr10:6441200-6443400	Weak transcription	Adipose Nuclei	Adipose
33	chr10:6441200-6443400	Enhancers	Brain Anterior Caudate	brain
34	chr10:6441200-6443600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:6441200-6443600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr10:6441200-6443600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr10:6441400-6442000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:6441400-6442000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr10:6441400-6442000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr10:6441400-6442000	Enhancers	Fetal Brain Male	brain
41	chr10:6441400-6442000	Enhancers	Dnd41	blood
42	chr10:6441400-6442200	Enhancers	Fetal Lung	lung
43	chr10:6441400-6442200	Enhancers	Fetal Muscle Leg	muscle
44	chr10:6441400-6442400	Enhancers	Lung	lung
45	chr10:6441400-6442600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr10:6441400-6443400	Enhancers	Primary hematopoietic stem cells	blood
47	chr10:6441400-6443600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:6441400-6443600	Weak transcription	Colon Smooth Muscle	Colon
49	chr10:6441400-6444000	Enhancers	Primary B cells from peripheral blood	blood
50	chr10:6441600-6441800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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